rs727504058
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs727504058(A;A) |
Make rs727504058(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 193617262 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs727504058 |
dbSNP (classic) | rs727504058 |
ClinGen | rs727504058 |
ebi | rs727504058 |
HLI | rs727504058 |
Exac | rs727504058 |
Gnomad | rs727504058 |
Varsome | rs727504058 |
LitVar | rs727504058 |
Map | rs727504058 |
PheGenI | rs727504058 |
Biobank | rs727504058 |
1000 genomes | rs727504058 |
hgdp | rs727504058 |
ensembl | rs727504058 |
geneview | rs727504058 |
scholar | rs727504058 |
rs727504058 | |
pharmgkb | rs727504058 |
gwascentral | rs727504058 |
openSNP | rs727504058 |
23andMe | rs727504058 |
SNPshot | rs727504058 |
SNPdbe | rs727504058 |
MSV3d | rs727504058 |
GWAS Ctlg | rs727504058 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504058(A;A) |
Alt | rs727504058(A;A) |
Reference | Rs727504058(T;T) |
Significance | Pathogenic |
Disease | not provided Dominant hereditary optic atrophy |
Variation | info |
Gene | OPA1 |
CLNDBN | not provided Dominant hereditary optic atrophy |
Reversed | 0 |
HGVS | NC_000003.11:g.193335051T>A |
CLNSRC | |
CLNACC | RCV000153617.2, RCV000178304.1, |